ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala) (rs10864198)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041665 SCV000065361 benign not specified 2012-02-02 criteria provided, single submitter clinical testing Caucasian data = 3655/7020 (ESP data)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000041665 SCV000114876 benign not specified 2013-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000041665 SCV000169757 benign not specified 2011-07-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics,PreventionGenetics RCV000041665 SCV000317185 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001281879 SCV000884837 benign none provided 2020-08-25 criteria provided, single submitter clinical testing
Mendelics RCV000986525 SCV001135540 benign Usher syndrome, type 2A 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001514999 SCV001722979 benign not provided 2020-11-25 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000986525 SCV001748503 benign Usher syndrome, type 2A 2021-07-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000986525 SCV001457065 benign Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000041665 SCV001739981 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000041665 SCV001953702 benign not specified no assertion criteria provided clinical testing

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